BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

307 related articles for article (PubMed ID: 22482803)

  • 1. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
    Scionti I; Greco F; Ricci G; Govi M; Arashiro P; Vercelli L; Berardinelli A; Angelini C; Antonini G; Cao M; Di Muzio A; Moggio M; Morandi L; Ricci E; Rodolico C; Ruggiero L; Santoro L; Siciliano G; Tomelleri G; Trevisan CP; Galluzzi G; Wright W; Zatz M; Tupler R
    Am J Hum Genet; 2012 Apr; 90(4):628-35. PubMed ID: 22482803
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
    Scionti I; Fabbri G; Fiorillo C; Ricci G; Greco F; D'Amico R; Termanini A; Vercelli L; Tomelleri G; Cao M; Santoro L; Percesepe A; Tupler R
    J Med Genet; 2012 Mar; 49(3):171-8. PubMed ID: 22217918
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
    Ricci G; Scionti I; Sera F; Govi M; D'Amico R; Frambolli I; Mele F; Filosto M; Vercelli L; Ruggiero L; Berardinelli A; Angelini C; Antonini G; Bucci E; Cao M; Daolio J; Di Muzio A; Di Leo R; Galluzzi G; Iannaccone E; Maggi L; Maruotti V; Moggio M; Mongini T; Morandi L; Nikolic A; Pastorello E; Ricci E; Rodolico C; Santoro L; Servida M; Siciliano G; Tomelleri G; Tupler R
    Brain; 2013 Nov; 136(Pt 11):3408-17. PubMed ID: 24030947
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).
    Dai Y; Li P; Wang Z; Liang F; Yang F; Fang L; Huang Y; Huang S; Zhou J; Wang D; Cui L; Wang K
    J Med Genet; 2020 Feb; 57(2):109-120. PubMed ID: 31506324
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
    Lemmers RJ; Wohlgemuth M; van der Gaag KJ; van der Vliet PJ; van Teijlingen CM; de Knijff P; Padberg GW; Frants RR; van der Maarel SM
    Am J Hum Genet; 2007 Nov; 81(5):884-94. PubMed ID: 17924332
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
    Ricci G; Mele F; Govi M; Ruggiero L; Sera F; Vercelli L; Bettio C; Santoro L; Mongini T; Villa L; Moggio M; Filosto M; Scarlato M; Previtali SC; Tripodi SM; Pegoraro E; Telese R; Di Muzio A; Rodolico C; Bucci E; Antonini G; D'Angelo MG; Berardinelli A; Maggi L; Piras R; Maioli MA; Siciliano G; Tomelleri G; Angelini C; Tupler R
    Sci Rep; 2020 Dec; 10(1):21648. PubMed ID: 33303865
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A simplified approach for FSHD molecular testing.
    Papanikos F; Skoulatou C; Sakellariou P; Kekou K; Christopoulos TK; Kanavakis E; Traeger-Synodinos J; Ioannou PC
    Clin Chim Acta; 2014 Feb; 429():96-103. PubMed ID: 24321734
    [TBL] [Abstract][Full Text] [Related]  

  • 8. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
    Lemmers RJ; Osborn M; Haaf T; Rogers M; Frants RR; Padberg GW; Cooper DN; van der Maarel SM; Upadhyaya M
    Neurology; 2003 Jul; 61(2):178-83. PubMed ID: 12874395
    [TBL] [Abstract][Full Text] [Related]  

  • 9. FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.
    Tsumagari K; Chen D; Hackman JR; Bossler AD; Ehrlich M
    J Med Genet; 2010 Nov; 47(11):745-51. PubMed ID: 20710047
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.
    Tsien F; Sun B; Hopkins NE; Vedanarayanan V; Figlewicz D; Winokur S; Ehrlich M
    Mol Genet Metab; 2001 Nov; 74(3):322-31. PubMed ID: 11708861
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.
    Wang ZQ; Wang N; van der Maarel S; Murong SX; Wu ZY
    Eur J Hum Genet; 2011 Jan; 19(1):64-9. PubMed ID: 20736973
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.
    Ricci G; Zatz M; Tupler R
    Curr Mol Med; 2014; 14(8):1052-1068. PubMed ID: 25323867
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
    de Greef JC; Wohlgemuth M; Chan OA; Hansson KB; Smeets D; Frants RR; Weemaes CM; Padberg GW; van der Maarel SM
    Neurology; 2007 Sep; 69(10):1018-26. PubMed ID: 17785671
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Improved characterization of FSHD mutations.
    Zhang Y; Forner J; Fournet S; Jeanpierre M
    Ann Genet; 2001; 44(2):105-10. PubMed ID: 11522250
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
    Ehrlich M; Jackson K; Tsumagari K; Camaño P; Lemmers RJ
    Chromosoma; 2007 Apr; 116(2):107-16. PubMed ID: 17131163
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
    Nguyen K; Puppo F; Roche S; Gaillard MC; Chaix C; Lagarde A; Pierret M; Vovan C; Olschwang S; Salort-Campana E; Attarian S; Bartoli M; Bernard R; Magdinier F; Levy N
    Hum Mutat; 2017 Oct; 38(10):1432-1441. PubMed ID: 28744936
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
    Erdmann H; Scharf F; Gehling S; Benet-Pagès A; Jakubiczka S; Becker K; Seipelt M; Kleefeld F; Knop KC; Prott EC; Hiebeler M; Montagnese F; Gläser D; Vorgerd M; Hagenacker T; Walter MC; Reilich P; Neuhann T; Zenker M; Holinski-Feder E; Schoser B; Abicht A
    Brain; 2023 Apr; 146(4):1388-1402. PubMed ID: 36100962
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis of facioscapulohumeral muscular dystrophy.
    Tupler R; Gabellini D
    Cell Mol Life Sci; 2004 Mar; 61(5):557-566. PubMed ID: 15004695
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
    Strafella C; Colantoni L; Megalizzi D; Trastulli G; Piorgo EP; Primiano G; Sancricca C; Ricci G; Siciliano G; Caltagirone C; Filosto M; Tasca G; Ricci E; Cascella R; Giardina E
    Clin Genet; 2024 Mar; 105(3):335-339. PubMed ID: 38041579
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
    de Greef JC; Lemmers RJ; van Engelen BG; Sacconi S; Venance SL; Frants RR; Tawil R; van der Maarel SM
    Hum Mutat; 2009 Oct; 30(10):1449-59. PubMed ID: 19728363
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.